Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "FAIVRE, Laurence"
Now showing items 1-11 of 11
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
MESSIAEN, Claude; RACINE, Caroline; KHATIM, Ahlem ...(Orphanet Journal of Rare Diseases. vol. 16, n° 1, 2021-08-04)Article de revueOpen access -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
HUSSON, Thomas; LECOQUIERRE, François; NICOLAS, Gaël ...(European Journal of Human Genetics, 2023-10-23)Article de revueOpen access -
Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
ROUX-LEVY, Pierre-Henri; SANLAVILLE, Damien; DE FREMINVILLE, Benedicte ...(European Journal of Medical Genetics. vol. 64, n° 10, 2021-10)Article de revue -
Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.
RICCARDI, Florence; ASTIER, Alexandre; GRISVAL, Margot ...(Genetics in Medicine. vol. 23, n° 10, pp. 2003-2004, 2021-06-02)Article de revue -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
FOROUTAN, Aidin; HAGHSHENAS, Sadegheh; BHAI, Pratibha ...(International Journal of Molecular Sciences. vol. 23, n° 3, 2022-02-05)Article de revueOpen access -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
BARC, Julien; TADROS, Rafik; GLINGE, Charlotte ...(Nature Genetics. vol. 54, n° 3, pp. 232-239)Article de revueOpen access -
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
TRAN MAU THEM, Frederic; DELANNE, Julian; DENOMMÉ-PICHON, Anne-Sophie ...(Frontiers in Genetics. vol. 14, pp. 1099995, 2023-01-01)Article de revueOpen access -
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
DENOMMÉ-PICHON, Anne-Sophie; MATALONGA, Leslie; DE BOER, Elke ...(Genetics in Medicine. vol. 25, n° 4, pp. 100018, 2023-04-01)Article de revueOpen access -
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
GARDE, Aurore; GUIBAUD, Laurent; GOLDENBERG, Alice ...(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)Article de revue -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
FAIVRE, Laurence; CRÉPIN, Jean-Charles; RÉDA, Manon ...(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
BARC, Julien; TADROS, Rafik; GLINGE, Charlotte ...(Nature Genetics. vol. 54, n° 3, pp. 232-239, 2022-03-01)Article de revueOpen access